rs4278097

Positions:

• chr7-90626192-A-G
• chr7-90626192-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001287135.2(CDK14):​c.123+21943A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.309 in 151,980 control chromosomes in the GnomAD database, including 8,176 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.31 (8176 hom., cov: 32)
• Consequence: CDK14 NM_001287135.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.01

Genes affected

CDK14 (HGNC:8883): (cyclin dependent kinase 14) Enables cyclin binding activity and cyclin-dependent protein serine/threonine kinase activity. Involved in G2/M transition of mitotic cell cycle and regulation of canonical Wnt signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. Part of cytoplasmic cyclin-dependent protein kinase holoenzyme complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.655 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CDK14	NM_001287135.2	c.123+21943A>G		intron_variant		ENST00000380050.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CDK14	ENST00000380050.8	c.123+21943A>G		intron_variant		1	NM_001287135.2	P4

Frequencies

GnomAD3 genomes AF: 0.309 AC: 46934 AN: 151860 Hom.: 8163 Cov.: 32

Gnomad AFR AF: 0.379

Gnomad AMI AF: 0.185

Gnomad AMR AF: 0.405

Gnomad ASJ AF: 0.252

Gnomad EAS AF: 0.673

Gnomad SAS AF: 0.382

Gnomad FIN AF: 0.249

Gnomad MID AF: 0.280

Gnomad NFE AF: 0.226

Gnomad OTH AF: 0.307

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.309 AC: 46982 AN: 151980 Hom.: 8176 Cov.: 32 AF XY: 0.316 AC XY: 23460 AN XY: 74268

Gnomad4 AFR AF: 0.379

Gnomad4 AMR AF: 0.406

Gnomad4 ASJ AF: 0.252

Gnomad4 EAS AF: 0.674

Gnomad4 SAS AF: 0.382

Gnomad4 FIN AF: 0.249

Gnomad4 NFE AF: 0.226

Gnomad4 OTH AF: 0.306

Alfa AF: 0.297 Hom.: 1453

Bravo AF: 0.328

Asia WGS AF: 0.493 AC: 1714 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	2.2
DANN	Benign	0.57

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs4278097; hg19: chr7-90255506; COSMIC: COSV66245691;